Varaico: Literature-Extracted Genetic Variants

PCDHGA5

68 papers

RefSeq Summary

This gene is a member of the protocadherin gamma gene cluster, one of three related clusters tandemly linked on chromosome five. These gene clusters have an immunoglobulin-like organization, suggestin...

Pfam Domains

Cadherin_2aa 30–112UCSCCadherin-like

Cadherinaa 138–233UCSCCadherin domain

Cadherinaa 247–338UCSCCadherin domain

Cadherinaa 352–443UCSCCadherin domain

Cadherinaa 457–553UCSCCadherin domain

Cadherinaa 578–665UCSCCadherin domain

Gene Aliases

HGNC Name

protocadherin gamma subfamily A, 5

HGNC Alias Symbols

CDH-GAMMA-A5; PCDH-GAMMA-A5

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_018918.3

p.E613D

c.1839G>C

Surrounding Variants

1 paper

NM_018918.3

p.E613D

c.1839G>T

1 paper

NM_018918.3

p.R627C

c.1879C>T

1 paper

NM_018918.3

p.R627H

c.1880G>A

1 paper

NM_018918.3

p.T628I

c.1883C>T

1 paper

NM_018918.3

p.D595N

c.1783G>A

1 paper

NM_018918.3

p.V592I

c.1774G>A

1 paper

NM_018918.3

p.R635S

c.1905A>C

1 paper

NM_018918.3

p.R635S

c.1905A>T

1 paper

NM_018918.3

p.A637V

c.1910C>T

1 paper

NM_018918.3

p.A582T

c.1744G>A

1 paper

NM_018918.3

p.V646I

c.1936G>A

1 paper

NM_018918.3

p.V662I

c.1984G>A